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Stefania Corti

Showing results (221-230 of 287) with videos related to

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Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Annals of Neurology|January 16, 2021
A Novel Homozygous VPS11 Variant May Cause Generalized DystoniaEdoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, et al.
International Journal of Molecular Sciences|March 29, 2023
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 GenesSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
Neuromuscular Disorders : NMD|May 16, 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literatureRoberta Brusa, Francesca Magri, Dimitra Papadimitriou, et al.
Frontiers in Genetics|May 29, 2026
<i>MYBPC1</i>-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian caseDaniele Velardo, Claudia Alberti, Delia Gagliardi, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Frontiers in Neurology|February 16, 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the LiteratureDelia Gagliardi, Eleonora Mauri, Francesca Magri, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Journal of the Neurological Sciences|April 24, 2012
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patientsGianna Ulzi, Marzia Lecchi, Valeria Sansone, et al.
Neurobiology of Aging|September 25, 2007
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutationAnna Bersano, Roberto Del Bo, Costanza Lamperti, et al.
Pageof 29

Showing results (221-230 of 287) with videos related to

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Pageof 29
Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.
Annals of Neurology|January 16, 2021
A Novel Homozygous VPS11 Variant May Cause Generalized DystoniaEdoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, et al.
International Journal of Molecular Sciences|March 29, 2023
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 GenesSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
Neuromuscular Disorders : NMD|May 16, 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literatureRoberta Brusa, Francesca Magri, Dimitra Papadimitriou, et al.
Frontiers in Genetics|May 29, 2026
<i>MYBPC1</i>-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian caseDaniele Velardo, Claudia Alberti, Delia Gagliardi, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Frontiers in Neurology|February 16, 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the LiteratureDelia Gagliardi, Eleonora Mauri, Francesca Magri, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Journal of the Neurological Sciences|April 24, 2012
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patientsGianna Ulzi, Marzia Lecchi, Valeria Sansone, et al.
Neurobiology of Aging|September 25, 2007
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutationAnna Bersano, Roberto Del Bo, Costanza Lamperti, et al.
Pageof 29